ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.829dup (p.Thr277fs)

dbSNP: rs1589665640
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800381 SCV000940093 pathogenic PTEN hamartoma tumor syndrome 2022-11-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 646152). This variant has not been reported in the literature in individuals affected with PTEN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr277Asnfs*21) in the PTEN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PTEN are known to be pathogenic (PMID: 9467011, 21194675).
Ambry Genetics RCV002424846 SCV002677318 pathogenic Hereditary cancer-predisposing syndrome 2022-09-29 criteria provided, single submitter clinical testing The c.829dupA pathogenic mutation, located in coding exon 8 of the PTEN gene, results from a duplication of A at nucleotide position 829, causing a translational frameshift with a predicted alternate stop codon (p.T277Nfs*21). This alteration has been observed in at least one individual meeting relaxed operational diagnostic criteria of the International Cowden Consortium (Pena-Couso L et al. Orphanet J Rare Dis, 2022 02;17:85). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003453664 SCV004189681 pathogenic Cowden syndrome 1 2023-10-02 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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